Concepedia

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti, Martine Tétreault, Asako Takanohashi, Giovanni A. Carosso, I Clément, Odile Boespflug‐Tanguy, Diana Rodriguez, Valérie Delague,

The American Journal of Human Genetics · 2011 · 270 citations · 17 references

DOIFull text

Open access

Concepts

References

17

Tissue-Specific Differences in Human Transfer RNA Expression

Kimberly A. Dittmar, Jeffrey M. Goodenbour, Tao Pan · PLoS Genetics · 2006 · 624 citations · Full text

, , +13

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Raphael Schiffmann, Marjo S. van der Knaap · Neurology · 2009 · 550 citations · Full text

, , +17

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Gert C. Scheper, Thom van der Klok, Rob J. van Andel et al. · Nature Genetics · 2007 · 453 citations

, , +17

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes G. Dauwerse, Jill Dixon, Saskia Seland et al. · Nature Genetics · 2010 · 368 citations

, , +7

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

Marjan E. Steenweg, Adeline Vanderver, Susan Blasér et al. · Brain · 2010 · 285 citations · Full text

, , +14